NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 5, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004023444.2

Allele description [Variation Report for NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)]

NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)

Gene:

APOB:apolipoprotein B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p24.1

Genomic location:

Preferred name:

NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)

HGVS:

NC_000002.12:g.21006168G>A
NG_011793.1:g.42906C>T
NM_000384.3:c.10700C>TMANE SELECT
NP_000375.3:p.Thr3567Met
NC_000002.11:g.21229040G>A
NM_000384.2:c.10700C>T

Protein change:

T3567M

Links:

dbSNP: rs368278927

NCBI 1000 Genomes Browser:

rs368278927

Molecular consequence:

NM_000384.3:c.10700C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004906204	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 5, 2023)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 17964958, 18325181, 23775634, 34428338, 34573395, 35979295, 36071769 Citation Link,
SCV005205801	Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham	no assertion criteria provided	Uncertain significance (May 2, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004906204

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 5, 2023)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV005205801

Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham

no assertion criteria provided

Uncertain significance
(May 2, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Asian- South Indian	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.

Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, Lee YT.

J Formos Med Assoc. 2007 Oct;106(10):799-807.

PubMed [citation]

PMID:: 17964958

High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.

Liyanage KE, Hooper AJ, Defesche JC, Burnett JR, van Bockxmeer FM.

Ann Clin Biochem. 2008 Mar;45(Pt 2):170-6. doi: 10.1258/acb.2007.007077.

PubMed [citation]

PMID:: 18325181

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV004906204.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

Unlikely to be causative of APOB-related hypobetalipoproteinemia (AR) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham, SCV005205801.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian- South Indian	not provided	not provided	not provided	clinical testing	not provided

Description

Previously reported by SCV001202004

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 11, 2025

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